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MCID: LCT022
MIFTS: 60

Lecithin:cholesterol Acyltransferase Deficiency

Categories: Genetic diseases, Eye diseases, Nephrological diseases, Metabolic diseases, Endocrine diseases, Blood diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lecithin:cholesterol Acyltransferase Deficiency

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MalaCards integrated aliases for Lecithin:cholesterol Acyltransferase Deficiency:

Name: Lecithin:cholesterol Acyltransferase Deficiency 57 12 75 37
Norum Disease 57 12 76 59 75 29 13 6 15
Lcat Deficiency 57 76 59 55
Lecithin Cholesterol Acyltransferase Deficiency 76 55 44
Lecithin-Cholesterol Acyltransferase Deficiency 59 75
Lecithin Acyltransferase Deficiency 12 73
Familial Lcat Deficiency 59 75
Fld 59 75
Deficiency, Lecithin:cholesterol Acyltransferase 40
Lecithin-Cholesterol Acyltransferase 13
Complete Lcat Deficiency 59
Lcatd 75

Characteristics:

Orphanet epidemiological data:

59
lcat deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;
familial lcat deficiency
Inheritance: Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
lecithin:cholesterol acyltransferase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Eye diseases Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare eye diseases
Rare renal diseases
Inborn errors of metabolism
Rare endocrine diseases
Rare haematological diseases


External Ids:

OMIM 57 245900
Disease Ontology 12 DOID:1391
ICD10 33 E78.6
MeSH 44 D007863
NCIt 50 C84813
SNOMED-CT 68 238091006 49227001
ICD10 via Orphanet 34 E78.6
UMLS via Orphanet 74 C0023195
MedGen 42 C0023195
KEGG 37 H00158
UMLS 73 C0023195
Sources

Summaries for Lecithin:cholesterol Acyltransferase Deficiency

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UniProtKB/Swiss-Prot : 75 Lecithin-cholesterol acyltransferase deficiency: A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

MalaCards based summary : Lecithin:cholesterol Acyltransferase Deficiency, also known as norum disease, is related to fish-eye disease and familial lcat deficiency. An important gene associated with Lecithin:cholesterol Acyltransferase Deficiency is LCAT (Lecithin-Cholesterol Acyltransferase), and among its related pathways/superpathways are Glycerophospholipid metabolism and Metabolism. The drugs Cosyntropin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and bone marrow, and related phenotypes are hypertension and splenomegaly

OMIM : 57 Lecithin:cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism and causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. (245900)

Wikipedia : 76 Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein... more...

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Related Diseases for Lecithin:cholesterol Acyltransferase Deficiency

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Diseases related to Lecithin:cholesterol Acyltransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 fish-eye disease 34.5 APOA1 APOA2 LCAT
2 familial lcat deficiency 32.2 ALB APOA1 APOA2 APOE LCAT
3 hypolipoproteinemia 29.7 APOA1 APOA2 APOB APOE LCAT LPA
4 diabetes mellitus, noninsulin-dependent 26.8 ALB APOA1 APOA2 APOB APOC2 APOC3
5 fatty liver disease 11.4
6 apo a-i deficiency 10.8 APOA1 LCAT
7 xanthoma disseminatum 10.7 APOB APOE
8 sea-blue histiocyte disease 10.7 APOE LCAT
9 schnyder corneal dystrophy 10.5 APOA2 APOB APOE
10 fetal macrosomia 10.5 APOA1 APOB LCAT
11 amyloidosis aa 10.5 APOA1 LCAT LPA
12 cerebral atherosclerosis 10.5 APOA1 APOE
13 apolipoprotein c-ii deficiency 10.5 APOC2 LPL
14 hepatic lipase deficiency 10.5 APOA1 APOE LPL
15 amyloidosis, familial visceral 10.5 APOA1 APOA2 LPA
16 familial lipoprotein lipase deficiency 10.4 APOC2 LPL
17 hyperlipoproteinemia, type v 10.4 APOC2 APOE LPL
18 recurrent acute pancreatitis 10.4 APOE LPL
19 arrhythmogenic right ventricular dysplasia, familial, 4 10.3 APOC3 LPA
20 hepatitis 10.3
21 hyperlipidemia, combined, 1 10.3 APOB APOC3 LPL
22 hereditary amyloidosis 10.3 APOA1 APOA2
23 ischemic heart disease 10.3 APOA1 APOB APOE LPL
24 carotid artery disease 10.3 APOA1 APOB APOE LPA
25 kwashiorkor 10.2 ALB LCAT
26 kidney disease 10.2
27 bardet-biedl syndrome 2 10.2 APOA1 APOC3 LPL
28 hypercholesterolemia, autosomal dominant, type b 10.2 APOB APOE LDLR
29 gallbladder disease 10.2 APOA1 APOB APOE CETP
30 arteriosclerosis 10.2 APOA1 APOB APOE LPA
31 bloom syndrome 10.1
32 alcoholic hepatitis 10.1
33 chronic kidney failure 10.1
34 diabetes mellitus 10.1
35 glomerulonephritis 10.1
36 acute pancreatitis 10.1
37 membranoproliferative glomerulonephritis 10.1
38 histiocytosis 10.1
39 pancreatitis 10.1
40 splenomegaly 10.1
41 leukodystrophy, hypomyelinating, 3 10.1 APOA1 APOA2 APOB APOE LPA
42 dysbaric osteonecrosis 10.0 APOA1 APOB
43 defective apolipoprotein b-100 10.0 APOB APOE LCAT LDLR
44 peripheral vascular disease 10.0 ALB APOA1 APOB LPA
45 homozygous familial hypercholesterolemia 9.9 APOB APOE LDLR LPL
46 uremia 9.9 ALB APOC3 LPL
47 cerebrovascular disease 9.9 APOA1 APOB APOE LDLR
48 aortic atherosclerosis 9.8 APOE CETP LDLR LPA
49 diabetes mellitus, insulin-dependent 9.8 ALB APOA1 APOB LPA
50 hypobetalipoproteinemia, familial, 1 9.8 APOA1 APOB APOE LCAT LDLR

Graphical network of the top 20 diseases related to Lecithin:cholesterol Acyltransferase Deficiency:



Diseases related to Lecithin:cholesterol Acyltransferase Deficiency
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Symptoms & Phenotypes for Lecithin:cholesterol Acyltransferase Deficiency

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Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
proteinuria
increased plasma triglycerides
decreased plasma esterified cholesterol
decreased apoa-i and apoa-ii
decreased plasma hdl (<1/10 of normal levels)
more
Genitourinary Kidneys:
renal failure

Hematology:
hemolytic anemia
normochromic anemia

Head And Neck Eyes:
corneal opacities
corneal lipid deposits


Clinical features from OMIM:

245900

Human phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
4 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
5 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
6 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
7 hypertriglyceridemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002155
8 hemolytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001878
9 hematuria 59 32 frequent (33%) Frequent (79-30%) HP:0000790
10 visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000572
11 lymphadenopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002716
12 atherosclerosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002621
13 opacification of the corneal stroma 32 HP:0007759
14 normochromic anemia 32 HP:0001895
15 decreased hdl cholesterol concentration 32 HP:0003233

GenomeRNAi Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.56 LPL APOA1 APOB APOC3 APOE CETP
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Lecithin:cholesterol Acyltransferase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 ALB APOA1 APOA2 APOB APOC2 APOE
2 endocrine/exocrine gland MP:0005379 9.76 ALB APOA1 APOE CSF1R IGBP1 LCAT
3 liver/biliary system MP:0005370 9.28 LPL NPC1L1 ALB APOA1 APOB APOE
Sources

Drugs & Therapeutics for Lecithin:cholesterol Acyltransferase Deficiency

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Drugs for Lecithin:cholesterol Acyltransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cosyntropin Approved Phase 3 16960-16-0 16129617
2
Epinephrine Approved, Vet_approved Phase 3 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
4
Racepinephrine Approved Phase 3 329-65-7 838
5 Adrenergic Agents Phase 3
6 Adrenergic Agonists Phase 3
7 Adrenergic alpha-Agonists Phase 3
8 Adrenergic beta-Agonists Phase 3
9 Anti-Asthmatic Agents Phase 3
10 Autonomic Agents Phase 3
11 Bronchodilator Agents Phase 3
12 Cortisol succinate Phase 3
13 Epinephryl borate Phase 3
14 Hormone Antagonists Phase 3
15 Hormones Phase 3
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
17 Hydrocortisone 17-butyrate 21-propionate Phase 3
18 Hydrocortisone acetate Phase 3
19 Mydriatics Phase 3
20 Neurotransmitter Agents Phase 3
21 Peripheral Nervous System Agents Phase 3
22 Respiratory System Agents Phase 3
23 Vasoconstrictor Agents Phase 3
24 Lecithin Nutraceutical Phase 1
25
Adenosine Approved, Investigational Not Applicable 58-61-7 60961
26 Pharmaceutical Solutions Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Is Adrenal Insufficiency Under-diagnosed in Hospitalized Cirrhosis Patients? Recruiting NCT03368066 Phase 3 Cosyntropin
2 Effect of ACP-501 on Safety, Tolerability, Pharmacokinetics and Pharmacodynamics in Subjects With Coronary Artery Disease Completed NCT01554800 Phase 1 ACP-501
3 Mendelian Reverse Cholesterol Transport Study Suspended NCT01782027 Not Applicable 3H-cholesterol bound to albumin

Search NIH Clinical Center for Lecithin:cholesterol Acyltransferase Deficiency

Cochrane evidence based reviews: lecithin cholesterol acyltransferase deficiency

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Genetic Tests for Lecithin:cholesterol Acyltransferase Deficiency

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Genetic tests related to Lecithin:cholesterol Acyltransferase Deficiency:

# Genetic test Affiliating Genes
1 Norum Disease 29 LCAT
Sources

Anatomical Context for Lecithin:cholesterol Acyltransferase Deficiency

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MalaCards organs/tissues related to Lecithin:cholesterol Acyltransferase Deficiency:

41
Eye, Bone, Bone Marrow, Kidney
Sources

Publications for Lecithin:cholesterol Acyltransferase Deficiency

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Articles related to Lecithin:cholesterol Acyltransferase Deficiency:

(show top 50) (show all 66)
# Title Authors Year
1
Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review. ( 29937398 )
2018
2
A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia. ( 28942093 )
2017
3
A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously. ( 28508975 )
2016
4
Recurrent glomerulopathy in a renal allograft due to lecithin cholesterol acyltransferase deficiency. ( 26693848 )
2016
5
Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement. ( 27055967 )
2016
6
A review on lecithin:cholesterol acyltransferase deficiency. ( 25172171 )
2015
7
Acquired lecithin:cholesterol acyltransferase deficiency as a major factor in lowering plasma HDL levels in chronic kidney disease. ( 25039266 )
2015
8
Lipoprotein subfractions highly associated with renal damage in familial lecithin:cholesterol acyltransferase deficiency. ( 24876348 )
2014
9
Lecithin cholesterol acyltransferase deficiency protects from diet-induced insulin resistance and obesity--novel insights from mouse models. ( 23374720 )
2013
10
Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease. ( 22189200 )
2012
11
Lecithin:cholesterol acyltransferase deficiency protects against cholesterol-induced hepatic endoplasmic reticulum stress in mice. ( 22500017 )
2012
12
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia. ( 22658148 )
2012
13
A case of familial lecithin-cholesterol acyltransferase deficiency on hemodialysis for over 20 years. ( 22105454 )
2011
14
Corticosteroid treatment of kidney disease in a patient with familial lecithin-cholesterol acyltransferase deficiency. ( 21327698 )
2011
15
Reduced plasma apolipoprotein A-V concentrations in two lecithin:cholesterol acyltransferase deficient patients. ( 20604726 )
2010
16
In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency. ( 20628294 )
2010
17
Familial lecithin-cholesterol acyltransferase deficiency. ( 19249891 )
2009
18
In vivo imaging of the cornea in a patient with lecithin-cholesterol acyltransferase deficiency. ( 19724202 )
2009
19
Splenomegaly with sea-blue histiocytosis, dyslipidemia, and nephropathy in a patient with lecithin-cholesterol acyltransferase deficiency: a clinicopathologic correlation. ( 19592052 )
2009
20
Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family. ( 16051254 )
2006
21
Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X. ( 16543491 )
2006
22
Point mutations in apolipoprotein A-I mimic the phenotype observed in patients with classical lecithin:cholesterol acyltransferase deficiency. ( 16245952 )
2005
23
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. ( 15994445 )
2005
24
Cardiac surgery for a patient with familial lecithin: cholesterol acyltransferase deficiency. ( 15997755 )
2005
25
Hypertriglyceridemia in lecithin-cholesterol acyltransferase-deficient mice is associated with hepatic overproduction of triglycerides, increased lipogenesis, and improved glucose tolerance. ( 14668345 )
2004
26
Histopathology of corneal changes in lecithin-cholesterol acyltransferase deficiency. ( 12410048 )
2002
27
Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterol acyltransferase-deficient mice. ( 11278414 )
2001
28
Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations. ( 11423760 )
2001
29
Marked atherosclerosis in a patient with familiar lecithin: cholesterol acyltransferase deficiency associated with end-stage renal disease and diabetes mellitus. ( 11684807 )
2001
30
Possible induction of renal dysfunction in patients with lecithin:cholesterol acyltransferase deficiency by oxidized phosphatidylcholine in glomeruli. ( 10073988 )
1999
31
Free cholesterol deposition in the cornea of human apolipoprotein A-II transgenic mice with functional lecithin: cholesterol acyltransferase deficiency. ( 10206431 )
1999
32
Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband. ( 9741700 )
1998
33
Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband. ( 9746267 )
1998
34
[Lecithin-cholesterol acyltransferase deficiency and fish eye disease]. ( 9645018 )
1998
35
Recurrence of lecithin cholesterol acyltransferase deficiency after kidney transplantation. ( 9394340 )
1997
36
Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --&amp;gt; Trp) and LCAT (Tyr171 --&amp;gt; Stop). ( 9180249 )
1997
37
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-II. ( 8636092 )
1996
38
Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA. ( 7658165 )
1995
39
Lecithin-cholesterol acyltransferase deficiency presenting with acute pancreatitis: effect of infusion of normal plasma on triglyceride-rich lipoproteins. ( 7629481 )
1995
40
Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency. ( 7749857 )
1995
41
Characterization of subspecies of lipoprotein containing apolipoprotein A-I in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 7605383 )
1995
42
Evidence for impaired cellular cholesterol removal mediated by apo A-I containing lipoproteins in patients with familial lecithin: cholesterol acyltransferase deficiency. ( 8049242 )
1994
43
Characterization of subspecies of apolipoprotein A-I-containing lipoprotein in homozygotes for familial lecithin:cholesterol acyltransferase deficiency. ( 8018670 )
1994
44
Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease. ( 8282802 )
1994
45
[Clinical features of lecithin-cholesterol acyltransferase deficiency]. ( 7746888 )
1994
46
Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism. ( 8318557 )
1993
47
Familial lecithin:cholesterol acyltransferase deficiency: further resolution of lipoprotein particle heterogeneity in the low density interval. ( 8141844 )
1993
48
Postabsorptive retinyl palmitate removal is retarded in lecithin-cholesterol acyltransferase deficiency. ( 8354337 )
1993
49
Long-term follow-up of a patient with lecithin cholesterol acyltransferase deficiency syndrome after kidney transplantation. ( 8333054 )
1993
50
The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. ( 1516702 )
1992
Sources

Variations for Lecithin:cholesterol Acyltransferase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

75 (show all 22)
# Symbol AA change Variation ID SNP ID
1 LCAT p.Gly54Ser VAR_004253
2 LCAT p.Gly57Arg VAR_004254
3 LCAT p.Ala117Thr VAR_004255 rs28940886
4 LCAT p.Arg159Trp VAR_004257 rs28940887
5 LCAT p.Arg164His VAR_004258 rs769485083
6 LCAT p.Arg171Trp VAR_004259
7 LCAT p.Tyr180Asn VAR_004260 rs749740660
8 LCAT p.Leu233Pro VAR_004262 rs28942087
9 LCAT p.Asn252Lys VAR_004263 rs121908049
10 LCAT p.Met317Ile VAR_004265 rs121908048
11 LCAT p.Thr345Met VAR_004266 rs28940888
12 LCAT p.Asn29Ile VAR_039020
13 LCAT p.Thr37Met VAR_039022 rs971887742
14 LCAT p.Arg164Cys VAR_039028
15 LCAT p.Ser205Asn VAR_039030
16 LCAT p.Lys242Asn VAR_039031
17 LCAT p.Arg268His VAR_039032 rs780824776
18 LCAT p.Thr298Ala VAR_039033
19 LCAT p.Thr298Ile VAR_039034
20 LCAT p.Pro331Ser VAR_039035
21 LCAT p.Val333Met VAR_039036 rs776035233
22 LCAT p.Phe406Val VAR_039038

ClinVar genetic disease variations for Lecithin:cholesterol Acyltransferase Deficiency:

6
(show all 35)
# Gene Variation Type Significance SNP ID Assembly Location
1 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh37 Chromosome 16, 67976604: 67976605
2 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh37 Chromosome 16, 67976589: 67976589
3 LCAT NM_000229.1(LCAT): c.508T> C (p.Trp170Arg) single nucleotide variant Pathogenic rs267607211 GRCh38 Chromosome 16, 67942686: 67942686
4 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh37 Chromosome 16, 67974179: 67974179
5 LCAT NM_000229.1(LCAT): c.951G> A (p.Met317Ile) single nucleotide variant Pathogenic rs121908048 GRCh38 Chromosome 16, 67940276: 67940276
6 LCAT NM_000229.1(LCAT): c.492_493insGGC (p.Arg164_Ala165insGly) insertion Pathogenic rs794726662 GRCh38 Chromosome 16, 67942701: 67942702
7 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh37 Chromosome 16, 67974374: 67974374
8 LCAT NM_000229.1(LCAT): c.756C> A (p.Asn252Lys) single nucleotide variant Pathogenic rs121908049 GRCh38 Chromosome 16, 67940471: 67940471
9 LCAT LCAT, 1-BP INS, EX1 insertion Pathogenic
10 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh37 Chromosome 16, 67974303: 67974303
11 LCAT NM_000229.1(LCAT): c.827T> A (p.Met276Lys) single nucleotide variant Pathogenic rs121908054 GRCh38 Chromosome 16, 67940400: 67940400
12 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh37 Chromosome 16, 67976316: 67976316
13 LCAT NM_000229.1(LCAT): c.698T> C (p.Leu233Pro) single nucleotide variant Pathogenic rs28942087 GRCh38 Chromosome 16, 67942413: 67942413
14 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh37 Chromosome 16, 67976622: 67976622
15 LCAT NM_000229.1(LCAT): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs28940887 GRCh38 Chromosome 16, 67942719: 67942719
16 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh38 Chromosome 16, 67940030: 67940030
17 LCAT NM_000229.1(LCAT): c.1197dupA (p.Gln400Thrfs) duplication Pathogenic rs794726663 GRCh37 Chromosome 16, 67973933: 67973933
18 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh37 Chromosome 16, 67974096: 67974096
19 LCAT NM_000229.1(LCAT): c.1034C> T (p.Thr345Met) single nucleotide variant Pathogenic rs28940888 GRCh38 Chromosome 16, 67940193: 67940193
20 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh37 Chromosome 16, 67976870: 67976870
21 LCAT NM_000229.1(LCAT): c.321C> A (p.Tyr107Ter) single nucleotide variant Pathogenic rs121908055 GRCh38 Chromosome 16, 67942967: 67942967
22 LCAT NM_000229.1(LCAT): c.1039C> T (p.Arg347Cys) single nucleotide variant Uncertain significance rs202017590 GRCh38 Chromosome 16, 67940188: 67940188
23 LCAT NM_000229.1(LCAT): c.1039C> T (p.Arg347Cys) single nucleotide variant Uncertain significance rs202017590 GRCh37 Chromosome 16, 67974091: 67974091
24 LCAT NM_000229.1(LCAT): c.159C> T (p.Pro53=) single nucleotide variant Uncertain significance rs556480808 GRCh37 Chromosome 16, 67977111: 67977111
25 LCAT NM_000229.1(LCAT): c.159C> T (p.Pro53=) single nucleotide variant Uncertain significance rs556480808 GRCh38 Chromosome 16, 67943208: 67943208
26 LCAT NM_000229.1(LCAT): c.534G> T (p.Glu178Asp) single nucleotide variant Uncertain significance rs886052220 GRCh38 Chromosome 16, 67942577: 67942577
27 LCAT NM_000229.1(LCAT): c.534G> T (p.Glu178Asp) single nucleotide variant Uncertain significance rs886052220 GRCh37 Chromosome 16, 67976480: 67976480
28 LCAT NM_000229.1(LCAT): c.*12T> C single nucleotide variant Uncertain significance rs886052219 GRCh38 Chromosome 16, 67939892: 67939892
29 LCAT NM_000229.1(LCAT): c.*12T> C single nucleotide variant Uncertain significance rs886052219 GRCh37 Chromosome 16, 67973795: 67973795
30 LCAT NM_000229.1(LCAT): c.748+13C> G single nucleotide variant Uncertain significance rs750086555 GRCh38 Chromosome 16, 67942350: 67942350
31 LCAT NM_000229.1(LCAT): c.748+13C> G single nucleotide variant Uncertain significance rs750086555 GRCh37 Chromosome 16, 67976253: 67976253
32 LCAT NM_000229.1(LCAT): c.1177C> T (p.Leu393=) single nucleotide variant Likely benign rs5923 GRCh38 Chromosome 16, 67940050: 67940050
33 LCAT NM_000229.1(LCAT): c.1177C> T (p.Leu393=) single nucleotide variant Likely benign rs5923 GRCh37 Chromosome 16, 67973953: 67973953
34 LCAT NM_000229.1(LCAT): c.981A> C (p.Gly327=) single nucleotide variant Uncertain significance rs139453193 GRCh38 Chromosome 16, 67940246: 67940246
35 LCAT NM_000229.1(LCAT): c.981A> C (p.Gly327=) single nucleotide variant Uncertain significance rs139453193 GRCh37 Chromosome 16, 67974149: 67974149
Sources

Expression for Lecithin:cholesterol Acyltransferase Deficiency

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Search GEO for disease gene expression data for Lecithin:cholesterol Acyltransferase Deficiency.
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Pathways for Lecithin:cholesterol Acyltransferase Deficiency

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Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

Pathways related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.85 ALB APOA1 APOA2 APOB APOC2 APOC3
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.47 APOA1 APOA2 APOB APOC2 APOC3 APOE
3
Lipoprotein metabolism 66
Show member pathways
 12.3 ALB APOA1 APOA2 APOB APOC2 APOC3
4
Folate Metabolism 1
Show member pathways
 12.1 ALB APOA1 APOB APOE LDLR
5
Metabolism of fat-soluble vitamins 66
Show member pathways
 12.09 APOA1 APOA2 APOB APOC2 APOC3 APOE
6
Ca, cAMP and Lipid Signaling 4
11.79 ALB APOA1 APOE
7
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.75 ALB APOA1 APOB APOE
8
PPAR signaling pathway 37
11.48 APOA1 APOA2 APOC3 LPL
9
Statin Pathway 1
Show member pathways
 11.44 APOA1 APOA2 APOB APOC2 APOC3 APOE
10
Fat digestion and absorption 37
Show member pathways
 11.3 APOA1 APOB NPC1L1
11
PPAR Alpha Pathway 1
11.05 APOA1 APOA2 APOC3
12
Vitamin digestion and absorption 37
10.9 APOA1 APOB
13
Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) 22
10.77 APOA1 APOA2
Sources

GO Terms for Lecithin:cholesterol Acyltransferase Deficiency

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Cellular components related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.95 APOA1 APOA2 APOB APOC2 APOC3 APOE
2 endoplasmic reticulum lumen GO:0005788 9.91 ALB APOA1 APOA2 APOB APOE
3 extracellular matrix GO:0031012 9.86 APOA1 APOC3 APOE LPL
4 blood microparticle GO:0072562 9.85 ALB APOA1 APOA2 APOE
5 high-density lipoprotein particle GO:0034364 9.73 APOA1 APOA2 APOC2 APOE CETP LCAT
6 low-density lipoprotein particle GO:0034362 9.72 APOA1 APOB APOC2 APOE LDLR
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.7 APOB APOE LDLR
8 spherical high-density lipoprotein particle GO:0034366 9.67 APOA1 APOA2 APOC2 APOC3
9 endocytic vesicle lumen GO:0071682 9.65 APOA1 APOB APOE
10 intermediate-density lipoprotein particle GO:0034363 9.55 APOA1 APOB APOC2 APOC3 APOE
11 discoidal high-density lipoprotein particle GO:0034365 9.54 APOA1 APOE
12 very-low-density lipoprotein particle GO:0034361 9.5 APOA1 APOA2 APOB APOC2 APOC3 APOE
13 chylomicron GO:0042627 9.17 APOA1 APOA2 APOB APOC2 APOC3 APOE
14 extracellular exosome GO:0070062 10.24 ALB APOA1 APOA2 APOB APOC2 APOC3
15 extracellular region GO:0005576 10.23 ALB APOA1 APOA2 APOB APOC2 APOC3
16 extracellular space GO:0005615 10.17 ALB APOA1 APOA2 APOB APOC2 APOC3

Biological processes related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Name GO ID Score Top Affiliating Genes
1 triglyceride catabolic process GO:0019433 9.99 APOA1 APOB APOC3 APOE LPL
2 cholesterol efflux GO:0033344 9.99 APOA1 APOA2 APOB APOC2 APOC3 APOE
3 low-density lipoprotein particle remodeling GO:0034374 9.97 APOA2 APOB APOE CETP LPA
4 lipid catabolic process GO:0016042 9.96 APOB APOC2 APOC3 LPL
5 phospholipid efflux GO:0033700 9.96 APOA1 APOA2 APOC2 APOC3 APOE
6 chylomicron remnant clearance GO:0034382 9.93 APOB APOC2 APOC3 APOE LDLR
7 high-density lipoprotein particle remodeling GO:0034375 9.92 ALB APOA1 APOA2 APOC2 APOC3 APOE
8 positive regulation of catalytic activity GO:0043085 9.91 APOA2 APOC2 APOE
9 chylomicron assembly GO:0034378 9.91 APOA1 APOA2 APOB APOC2 APOC3 APOE
10 high-density lipoprotein particle clearance GO:0034384 9.9 APOA1 APOA2 APOC2 APOE
11 phospholipid metabolic process GO:0006644 9.89 APOA1 LCAT LPL
12 lipoprotein biosynthetic process GO:0042158 9.88 APOA1 APOB APOE LCAT
13 phospholipid transport GO:0015914 9.87 APOA1 CETP LDLR
14 cholesterol biosynthetic process GO:0006695 9.85 APOA1 APOE NPC1L1
15 phosphatidylcholine biosynthetic process GO:0006656 9.84 APOA1 APOA2 LCAT
16 phosphatidylcholine metabolic process GO:0046470 9.81 APOA1 CETP LCAT
17 high-density lipoprotein particle assembly GO:0034380 9.81 APOA1 APOA2 APOE
18 positive regulation of cholesterol esterification GO:0010873 9.8 APOA1 APOA2 APOE
19 regulation of Cdc42 protein signal transduction GO:0032489 9.8 APOA1 APOC3 APOE
20 lipoprotein metabolic process GO:0042157 9.8 APOA1 APOA2 APOB APOC3 APOE LDLR
21 lipoprotein catabolic process GO:0042159 9.79 APOB APOE LDLR
22 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.79 APOA1 APOA2 APOC3
23 low-density lipoprotein particle clearance GO:0034383 9.74 APOB LDLR
24 positive regulation of endocytosis GO:0045807 9.74 APOE LDLR
25 artery morphogenesis GO:0048844 9.74 APOB APOE
26 negative regulation of lipid catabolic process GO:0050995 9.74 APOA2 APOC3
27 lipoprotein transport GO:0042953 9.74 APOB APOC2
28 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.74 APOB LPL
29 positive regulation of lipid biosynthetic process GO:0046889 9.74 APOA1 APOE
30 positive regulation of fatty acid biosynthetic process GO:0045723 9.73 APOA1 APOC2
31 regulation of protein metabolic process GO:0051246 9.73 APOE LDLR
32 regulation of cholesterol metabolic process GO:0090181 9.73 APOE LDLR
33 positive regulation of lipoprotein lipase activity GO:0051006 9.73 APOA1 APOC2
34 very-low-density lipoprotein particle assembly GO:0034379 9.73 APOB APOC3
35 positive regulation of chemokine secretion GO:0090197 9.72 CSF1R LPL
36 phospholipid homeostasis GO:0055091 9.72 APOA1 CETP
37 intestinal cholesterol absorption GO:0030299 9.72 LDLR NPC1L1
38 positive regulation of triglyceride catabolic process GO:0010898 9.72 APOA1 APOC2
39 neuron projection regeneration GO:0031102 9.71 APOA1 APOE
40 regulation of cholesterol transport GO:0032374 9.71 APOA1 APOE
41 positive regulation of cholesterol storage GO:0010886 9.71 APOB LPL
42 negative regulation of receptor-mediated endocytosis GO:0048261 9.71 APOC2 APOC3
43 peptidyl-methionine modification GO:0018206 9.71 APOA1 APOA2
44 cholesterol import GO:0070508 9.7 APOA1 LDLR
45 negative regulation of cytokine secretion involved in immune response GO:0002740 9.7 APOA1 APOA2
46 very-low-density lipoprotein particle clearance GO:0034447 9.7 APOB APOE
47 regulation of intestinal cholesterol absorption GO:0030300 9.7 APOA1 APOA2
48 reverse cholesterol transport GO:0043691 9.7 APOA1 APOA2 APOC2 APOC3 APOE CETP
49 negative regulation of lipase activity GO:0060192 9.69 APOA1 APOA2
50 negative regulation of very-low-density lipoprotein particle clearance GO:0010916 9.68 APOC2 APOC3

Molecular functions related to Lecithin:cholesterol Acyltransferase Deficiency according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.86 ALB APOA1 APOA2 APOB APOC2 APOC3
2 phospholipid binding GO:0005543 9.83 APOA1 APOA2 APOB APOC3 APOE
3 heparin binding GO:0008201 9.81 APOB APOE LPA LPL
4 cholesterol binding GO:0015485 9.72 APOA1 APOA2 APOC3 APOE CETP
5 amyloid-beta binding GO:0001540 9.71 APOA1 APOE LDLR
6 phosphatidylcholine binding GO:0031210 9.63 APOA1 APOA2 CETP
7 low-density lipoprotein particle receptor binding GO:0050750 9.58 APOB APOE
8 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.58 APOA1 APOA2 APOE
9 phospholipid transporter activity GO:0005548 9.57 APOA1 CETP
10 apolipoprotein binding GO:0034185 9.56 LPA LPL
11 high-density lipoprotein particle binding GO:0008035 9.55 APOA1 APOA2
12 high-density lipoprotein particle receptor binding GO:0070653 9.54 APOA1 APOA2 APOC3
13 lipoprotein particle binding GO:0071813 9.52 APOA1 APOE
14 apolipoprotein receptor binding GO:0034190 9.49 APOA1 APOA2
15 triglyceride binding GO:0017129 9.48 CETP LPL
16 lipase inhibitor activity GO:0055102 9.46 APOA1 APOA2 APOC2 APOC3
17 lipid transporter activity GO:0005319 9.35 APOA1 APOA2 APOB APOE CETP
18 cholesterol transporter activity GO:0017127 9.02 APOA1 APOA2 APOB APOE CETP
Sources

Sources for Lecithin:cholesterol Acyltransferase Deficiency

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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